view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2721): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 7 | 0.1429 | 2728 | c.*16 others(2739): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2721): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 7 | 0.1429 | 2728 | c.*22 others(2739): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0323 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0315 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18986.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0316 a0001c0003t0004g0317 |
2 | 4 | 0.5000 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0320 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0187 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0012 | a0001c0001t0002g0089 a0001c0001t0008g0102 a0001c0001t0008g0103 others(3): Show |
6 | 8 | 0.7500 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00673.hp1 others(16): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0005a0001c0001t0010a0001c0001t0025others(1): Show | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(16): Show |
19 | 21 | 0.9048 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0087 a0001c0001t0002g0088 others(59): Show |
63 | 65 | 0.9692 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 a0001c0001t0003g0037 |
2 | 4 | 0.5000 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0217 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0216 |
3 | 5 | 0.6000 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0283 a0001c0001t0002g0158 a0001c0001t0006g0003 others(4): Show |
8 | 10 | 0.8000 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2721): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0100 | 1 | 3 | 0.3333 | 2728 | c.298 others(2745): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2721): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2728 | c.-17 others(2739): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318262 | G | GAGAGGGG others(2721): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0044 | a0044c0120 | a0044c0120t0006 | a0044c0120t0006g0074 | 1 | 148 | 0.0068 | 2728 | c.723 others(2745): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924712 | A | ATAGAAAC others(2721): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 212 | 0.0047 | 2728 | c.718 others(2745): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2721): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 224 | 0.0045 | 2728 | c.*39 others(2739): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1290146 | T | TCCCCCGT others(2721): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0005 | a0005c0017 | a0005c0017t0002 | a0005c0017t0002g0287 | 1 | 266 | 0.0038 | 2728 | c.166 others(2745): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2721): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02165.hp1 HG02559.hp1 others(4): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0010 | a0001c0001t0003a0003c0003t0003a0009c0010t0003 | a0001c0001t0003g0059 a0001c0001t0003g0171 a0001c0001t0003g0188 others(4): Show |
7 | 55 | 0.1273 | 2728 | c.192 others(2747): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2721): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0092 | 1 | 211 | 0.0047 | 2728 | c.-22 others(2747): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2721): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0356 | 1 | 280 | 0.0036 | 2728 | c.-18 others(2749): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2721): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0150 | 1 | 179 | 0.0056 | 2728 | c.600 others(2747): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TNFAIP8_chr5_119351019_119404688 | 119352798 | T | TAATAAAC others(2721): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0255 | 1 | 379 | 0.0026 | 2728 | c.-32 others(2739): Show |
TNFAIP8 | ENSG00000145779.8 | transcript | ENST00000504771.3 | protein_coding | 3220 | chr5 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGCG others(2721): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0262 | 1 | 146 | 0.0068 | 2728 | c.114 others(2745): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2722): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 194 | 0.0052 | 2729 | c.573 others(2746): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2722): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0188 | 1 | 3 | 0.3333 | 2729 | c.298 others(2746): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2722): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18968.hp2 NA18974.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0086 a0001c0001t0002g0098 others(4): Show |
8 | 10 | 0.8000 | 2729 | c.298 others(2746): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2722): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0326 | 1 | 3 | 0.3333 | 2729 | c.298 others(2746): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0012 | a0012c0037 | a0012c0037t0005 | a0012c0037t0005g0278 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0187 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0174 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0223 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2722): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 71 | 0.0141 | 2729 | c.153 others(2748): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2722): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 49 | 0.0204 | 2729 | c.192 others(2748): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2723): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0054 | 1 | 371 | 0.0027 | 2730 | c.96+ others(2745): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ARL8B_chr3_5117292_5185911 | 5169354 | A | ACTTCTGG others(2723): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 301 | 0.0033 | 2730 | c.124 others(2747): Show |
ARL8B | ENSG00000134108.14 | transcript | ENST00000256496.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2723): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 194 | 0.0052 | 2730 | c.573 others(2747): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293454 | C | CCACCTTC others(2723): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0170 | 1 | 272 | 0.0037 | 2730 | c.411 others(2747): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2723): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02040.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0098 |
3 | 18 | 0.1667 | 2730 | c.164 others(2749): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2723): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 227 | 0.0044 | 2730 | c.-25 others(2747): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859736 | C | CGGGTGTG others(2723): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0018 | a0018c0057 | a0018c0057t0001 | a0018c0057t0001g0147 | 1 | 32 | 0.0313 | 2730 | c.153 others(2749): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar |